Related gene-specific medical variations for Gene (Select 4292) - ClinVar

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Links from Gene

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3230766	NM_000249.3:c.2004_2005insALU	MLH1	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3230752	NM_000249.3:c.153_154insALU	MLH1	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 2689431	NM_000249.4(MLH1):c.604G>A (p.Ala202Thr)	MLH1 (A104T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689430	NM_000249.4(MLH1):c.1559-5065T>G	MLH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2689429	NM_000249.4(MLH1):c.1559-1838C>T	MLH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2682006	NM_000249.4(MLH1):c.635C>A (p.Thr212Asn)	MLH1 (T114N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2682005	NM_000249.4(MLH1):c.23T>C (p.Ile8Thr)	MLH1 (I8T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2682004	NM_000249.4(MLH1):c.1180G>A (p.Asp394Asn)	MLH1 (D153N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2676589	NM_000249.4(MLH1):c.1148T>G (p.Met383Arg)	MLH1 (M142R +5 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2676586	NM_000249.4(MLH1):c.-167del	MLH1	Deletion	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2676584	NM_000249.4(MLH1):c.940G>A (p.Val314Ile)	MLH1 (V216I +3 more)	Single nucleotide variant (missense variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2676583	NM_000249.4(MLH1):c.485G>A (p.Arg162Lys)	MLH1 (R129K +2 more)	Single nucleotide variant (missense variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2676582	NM_000249.4(MLH1):c.373G>A (p.Ala125Thr)	MLH1 (A125T +2 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2676581	NM_000249.4(MLH1):c.1838A>G (p.Glu613Gly)	MLH1 (E255G +5 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2676579	NM_000249.4(MLH1):c.1012A>G (p.Asn338Asp)	MLH1 (N240D +3 more)	Single nucleotide variant (missense variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2676578	NM_000249.4(MLH1):c.973C>G (p.Arg325Gly)	MLH1 (R227G +3 more)	Single nucleotide variant (missense variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2676577	NM_000249.4(MLH1):c.1894G>A (p.Glu632Lys)	MLH1 (E274K +5 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2575186	NM_000249.4(MLH1):c.2174G>T (p.Arg725Leu)	MLH1 (R367L +8 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2574144	NM_000249.4(MLH1):c.1667+8A>T	MLH1	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2574143	NM_000249.4(MLH1):c.1667+7C>T	MLH1	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2574142	NM_000249.4(MLH1):c.1667+2_1667+4del	MLH1	Deletion (splice donor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2428711	NM_000249.4(MLH1):c.652T>A (p.Ser218Thr)	MLH1 (S120T +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1777582	NM_000249.3:c.1667+678insALU	MLH1	Insertion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1344897	NM_000249.4(MLH1):c.55_63delinsT (p.Ile19fs)	MLH1 (I19fs)	Indel (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 1330085	NM_000249.4(MLH1):c.450C>G (p.Ile150Met)	MLH1 (I117M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1327071	NM_000249.4(MLH1):c.2192C>A (p.Pro731His)	MLH1 (P373H +8 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 1065547	NM_000249.3:c.(545+1_546-1)_(1558+1_1559-1)dup	MLH1	Duplication	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1065546	NM_000249.3:c.(1667+1_1668-1)_(1731+1_1732-1)dup	MLH1	Duplication	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1065545	NM_000249.3:c.(1896+1_1897-1)_(2103+1_2104-1)dup	MLH1	Duplication	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 993078	NM_000249.4:c.208_306del	MLH1	Deletion	not provided	GPathogenic
Select item 993077	NM_000249.4:c.1559_1667del	MLH1	Deletion	not provided	GPathogenic
Select item 989465	NM_000249.3(MLH1):c.454-?_545+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 989464	NM_000249.3(MLH1):c.(207+1_208-1)_(545+1_546-1)del (p.Lys70Valfs)	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 873418	NM_000249.4(MLH1):c.678-481C>T	MLH1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 873085	NM_000249.3:c.(306+1_307-1)_(790+1_791-1)del	MLH1	Deletion	Lynch syndrome 1	GLikely pathogenic
Select item 873084	NM_000249.3:c.(1896+1_1897-1)_*193del	MLH1	Deletion	Lynch syndrome 1	GPathogenic
Select item 873083	NM_000249.3:c.(1409+1_1410-1)_(1558+1_1559-1)del	MLH1	Deletion	Lynch syndrome 1	GPathogenic
Select item 870303	NM_000249.4(MLH1):c.588+9_588+10insLINE1	MLH1	Insertion	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 635950	NC_000003.12:g.36993510_36999509del	MLH1	Deletion	Colon cancer	GPathogenic
Select item 617615	NM_000249.3(MLH1):c.512_513insAlu	MLH1	Insertion	Lynch syndrome 1	GPathogenic
Select item 584578	NM_000249.3(MLH1):c.(453+1_454-1)_(545+1_546-1)del	MLH1	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 560785	NM_000249.4(MLH1):c.748A>T (p.Asn250Tyr)	MLH1 (N250Y +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 560779	NM_000249.3(MLH1):c.-100T>C	MLH1	Single nucleotide variant	not provided	GLikely benign
Select item 242651	NM_000249.4(MLH1):c.453+625_545+920delinsT	MLH1	Indel (splice acceptor variant +2 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242650	NM_000249.4(MLH1):c.545+1271_677+737delinsCA	MLH1	Indel (splice acceptor variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 224573	NM_000249.3(MLH1):c.1668-?_2103+?dup	MLH1	Duplication	Lynch syndrome	GUncertain significance
Select item 219292	NM_000249.4(MLH1):c.2263A>G (p.Arg755Gly)	MLH1 (R755G +8 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GPathogenic
Select item 218026	NM_000249.3(MLH1):c.589-?_677+?del	MLH1	Deletion	not provided	GPathogenic
Select item 182539	NM_000249.3:c.1039-6insA	MLH1	Insertion	Hereditary cancer-predisposing syndrome	GBenign
Select item 136210	NM_000249.4(MLH1):c.791-79A>G	MLH1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 126988	NM_000249.4(MLH1):c.1912G>A (p.Gly638Arg)	MLH1 (G638R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 126987	NM_000249.4(MLH1):c.1668-35G>A	MLH1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 126986	NM_000249.4(MLH1):c.1226A>C (p.Gln409Pro)	MLH1 (Q409P +5 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 126984	NM_000249.4(MLH1):c.117-109A>G	MLH1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 90429	NM_000249.3(MLH1):c.885-?_1731+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 90428	NM_000249.3(MLH1):c.885-?_1038+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 90411	NM_000249.4(MLH1):c.884+2T>C	MLH1	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90377	NM_000249.3(MLH1):c.791-?_884+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 90376	NM_000249.3(MLH1):c.791-?_1558+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 90375	NM_000249.4(MLH1):c.791-7T>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GLikely pathogenic
Select item 90343	NM_000249.4(MLH1):c.73A>T (p.Ile25Phe)	MLH1 (I25F)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90329	NM_000249.3(MLH1):c.678-?_884+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 90328	NM_000249.3(MLH1):c.678-?_1558+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 90323	NM_000249.4(MLH1):c.678-1G>T	MLH1	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90321	NM_000249.4(MLH1):c.677_677+1insT	MLH1	Insertion (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90271	NM_000249.3(MLH1):c.546-?_790+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 90270	NM_000249.3(MLH1):c.546-?_677+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 90269	NM_000249.3(MLH1):c.546-?_1409+?dup	MLH1	Duplication	Lynch syndrome	GPathogenic
Select item 90198	NM_000249.3(MLH1):c.381-?_545+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 90162	NM_000249.3(MLH1):c.307-?_545+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 90130	NM_000249.4(MLH1):c.293_304del (p.Gly98_Gly101del)	MLH1	Deletion (inframe_deletion +4 more)	Lynch syndrome	GLikely pathogenic
Select item 90052	NM_000249.4(MLH1):c.2104-1G>T	MLH1	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90037	NM_000249.3(MLH1):c.208-?_790+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 90035	NM_000249.3(MLH1):c.208-?_453+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 90033	NM_000249.3(MLH1):c.208-?_306+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 89984	NM_000249.4(MLH1):c.1990-16_1990-2del	MLH1	Deletion (splice acceptor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 89933	NM_000249.3(MLH1):c.1897-?_1989+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 89867	NM_000249.3(MLH1):c.1732-?_2103+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 89866	NM_000249.3(MLH1):c.1732-?_1896+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 89853	NM_000249.4(MLH1):c.1731+3A>T	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GLikely pathogenic
Select item 89832	NM_000249.3(MLH1):c.1668-?_1896+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 89831	NM_000249.3(MLH1):c.1668-?_1731+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 89789	NM_000249.3(MLH1):c.1559-?_1731+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 89788	NM_000249.3(MLH1):c.1559-?_1667+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 89774	NM_000249.4(MLH1):c.1558+2T>G	MLH1	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 89726	NM_000249.3(MLH1):c.1410-?_1731+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 89725	NM_000249.3(MLH1):c.1410-?_1558+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 89720	NM_000249.4(MLH1):c.1409+2T>G	MLH1	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 89671	NM_000249.3(MLH1):c.117-?_545+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 89670	NM_000249.3(MLH1):c.117-?_380+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 89668	NM_000249.3(MLH1):c.117-?_207+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 89628	NM_000249.3(MLH1):c.1039-?_1558+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 89598	NM_000249.3(MLH1):c.-73960_*46597del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 17102	NG_007109.2:g.4853_5124\|gom	MLH1	Variation	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 17092	MLH1, HYPERMETHYLATION	MLH1	Variation	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 17091	MLH1, EX16DEL	MLH1	Deletion	Colorectal cancer, hereditary nonpolyposis, type 2 +1 more	GPathogenic

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Items: 96